Braz Dent J (2003) 14(1): 67-70 Goldenhar’s syndrome - case report ISSN 0103-644067

Goldenhar’s Syndrome - Case Report

Antônio Luiz Barbosa PINHEIRO1 Luciana Cavalcanti ARAÚJO2 Suely Baptista OLIVEIRA2 Maria Carmeli Correia SAMPAIO3 André Carlos FREITAS4

1Laser Center, School of Dentistry, Federal University of Bahia (UFBA), Salvador, BA, Brazil 2Doctorate Program in Dentistry, UFPB/UFBA, João Pessoa, PB/Salvador, BA, Brazil 3School of Dentistry, Federal University of Paraiba (UFPB), João Pessoa, PB, Brazil 4Department of Diagnosis and Therapy, School of Dentistry, Federal University of Bahia (UFBA), Salvador, BA, Brazil

Goldenhar’s syndrome is a rare condition described initially in the early 1950’s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo- vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar’s syndrome in an 11-year-old female, who presented all classical signs of this rare condition

Key Words: deformity, manifestation, oculo-auriculo-vertebral displasia.

INTRODUCTION visceral anomalies (4). There is not enough information to identify its Goldenhar´s syndrome is a rare presumedly in- etiologic factors. Abnormalities of chromosomes have herited condition, which has a multifactorial been identified (5). On the other hand, another study etiopathology that also includes nutritional and envi- suggested a disturbance of the neural crest cells as the ronmental factors that can result in disturbances of cause of the disease (6). The influence of other factors, blastogenesis (1). There are several terms used to de- including the environment, during pregnancy has been scribe this rare condition known as oculo-auriculo- also blamed. The ingestion of some drugs such as vertebral (OAV) dysplasia, including Goldenhar’s syn- cocaine, thalidomide, retinoic acid, and tamoxifen by drome and (2). Goldenhar first the mother were also related to the development of the described this condition in 1952 as a disease that pre- disease (4). Maternal diabetes has also been suggested sents a combination of several anomalies such as der- as an etiologic factor (7). mal epibulbar tumors, peri-auricular appendices and There is an overall consensus that the diagnosis malformation of the ears. In early 1990’s, this condition of this disease must not be only based upon radiologic was better understood and it was agreed that, besides or laboratory results. The diagnosis of Goldenhar’s the picture described by Goldenhar (1952) and Gorlin syndrome should be mainly based on the clinical aspect (1963), this syndrome may also present heart diseases and associated with both systemic conditions and ra- and hypoplasia of the zygomatic, mandibular and max- diologic findings (7). Most authors consider the pres- illary bones (3). Some authors also pointed out facial ence of anomalies of the ear (microtia) and of appendi- muscle hypoplasia, anatomical and morphological ab- ces on the ear necessary for diagnosis. Additionally, normalities of the tongue, vertebral abnormalities, facial asymmetry or facial and/or mandibular hypopla- anomalies of the eyes (1), lip and cleft palate (3), sia, dermal epibulbar tumors, palpebral alterations, ver- disturbances of the central nervous system and other tebral anomalies, lateral facial clefts, and renal prob-

Correspondence: Dr. Antonio Luiz B. Pinheiro, Av. Araújo Pinho 62, Canela, 40110-150 Salvador, BA, Brasil. e-mail: [email protected]

Braz Dent J 14(1) 2003 68 A.L.B. Pinheiro et al. lems are observed (8,9). Additionally both laboratory possibility of agenesis of these bones with lack of and image tests are important for the diagnosis of the fusion of the zygomatic arch and agenesis of the pa- disease because anomalies of the skeletal or facial latine bones. Palatal cleft may be observed radiographi- bones can be diagnosed by means of several types of cally (10). Ophthalmologic and otorhinolaryngologic image exams available today. Radiographic examina- examination are also important for the final diagnosis. tion of zygomatic bones shows a macroscopic defi- ciency and developmental symmetry. There is also a CASE REPORT

An 11-year-old white female was examined at the Oral and Maxillofacial Clinic of the School of Dentistry of the Federal University of Bahia. Clinical examination indicated Goldenhar’s syndrome. The pa- tient presented facial asymmetry, hypoplasia of the mandible, dermoid epibulbar tumor on the left eye (Figure 1) and birthmarks on the upper lip and palate (Figure 2). Additionally there was evidence that peri- auricular polyps were surgically removed when the patient was eight months old (Figure 3). No mental problem was detected during examination. There were no signs of hearing impairment or lip and cleft palate. Figure 1. Facial assymetry of the left side and dermal epibulbar The mother reported the use of an anti-convulsive drug Ò cyst on the left eye. (Comital ) because of epilepsy, prior to knowing of the pregnancy (about four weeks) when the drug was changed to Phenobarbital (GardenalÒ) a more suitable drug for use during pregnancy. X-ray examination of the skull and vertebral column did not show abnormali- ties. However, orthopantomographic examination de- tected hypoplasia of the mandible on the left side (Figure 4), absence of the coronoid process and hypo- plasia of the mandibular condyle. Dental development was normal.

Figure 2. Birthmark on the upper lip.

Figure 4. Orthopantomography: Agenesia of the coronoid process Figure 3. Scars resulting from the surgical removal of peri- of the mandible, mandibular hypolasia and hypoplasia of the auricular polyps. condyle on the left side.

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DISCUSSION of a genetic origin of the OAV syndrome (10). In this case, the substitution of ComitalÒ by GardenalÒ may The study of this condition is still controversial explain the development of the syndrome without the because of its complexity and broad clinical aspects. presence of all of its variants. Microtia appears to represent its less complex manifes- tation, however, several facial and systemic abnormali- RESUMO ties may also be observed (9). The patient exhibited clinical characteristics of A Síndrome de Goldenhar é uma condição rara que foi descrita complex and severe AOV syndrome as described pre- inicialmente em 1952 como uma combinação de anomalias que viously (1,6), including facial asymmetry, hypoplasia incluíam tumores dermóides epibulbares, apêndices auriculares of the mandible, epibulbar dermoid tumor on the left e mal-formações da orelha. Em 1963, Gorlin sugeriu o termo displasia Oculo-Auriculo-Vertebral (OAV) incluindo anomalias eye, vestiges of cleft lip, and the presence of previously vertebrais nesta entidade clínica. A sua etiologia é pouco clara, removed peri-auricular appendices. Facial asymmetry apresentando-se geneticamente variável e de causa bastante and hypoplasia of the mandible are typical features of heterogênea. Os autores relatam um caso clínico de Síndrome de OAV syndrome (11). On the other hand, the presence Goldenhar numa criança do sexo feminino, com 11 anos de of epibulbar dermoid tumor is variable (3). Although idade, que apresenta características clássicas dessa síndrome the patient showed vestiges of a cleft lip, this alteration como tumor epibulbar dermóide, apêndices auriculares, hipoplasia is observed in about 5% of the cases (3). 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Accepted May 8, 2002

Braz Dent J 14(1) 2003